Age-related survey of clinical genetics literature and related resources

IF 2.8 3区医学 Q2 GENETICS & HEREDITY

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-04-12 DOI:10.1002/ajmg.c.32040

Amelia M. Solomon, Benjamin D. Solomon

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Abstract

Genetic conditions affect people throughout their entire lifespan; however, many clinical geneticists focus on the care of pediatric individuals. We analyzed the medical literature and related resources to help assess to what extent adults with genetic diseases were represented. This included general literature searches of PubMed (from 2001 through 2022), specific databases (the FDA orphan drug list and the Clinical Genomic Database) related to management and direct treatment of genetic conditions, and textbooks and morphology guides relevant to the diagnosis of genetic conditions. In the field of genetics/genomics in general, we overall detected a statistically significant emphasis on pediatric populations in the medical literature compared to select other disciplines and compared with the global population distribution. Clinical genetics articles about adults tended to focus on younger adult ages. In clinical genetics, management and treatments, as well as illustrations in several educational/diagnostic resources tended to focus on pediatric populations.

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年龄相关性临床遗传学文献及相关资源调查

遗传条件影响人的整个一生;然而，许多临床遗传学家专注于儿科个体的护理。我们分析了医学文献和相关资源，以帮助评估成人遗传病的代表程度。这包括PubMed的一般文献检索(从2001年到2022年)，与遗传疾病的管理和直接治疗相关的特定数据库(FDA孤儿药清单和临床基因组数据库)，以及与遗传疾病诊断相关的教科书和形态学指南。在遗传学/基因组学领域，我们总体上发现，与其他学科和全球人口分布相比，医学文献中对儿科人口的重视在统计上具有显著意义。关于成人的临床遗传学文章倾向于关注年轻人。在临床遗传学中，管理和治疗，以及一些教育/诊断资源中的插图倾向于关注儿科人群。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.